A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6776395



Internal ID9835549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:76706113..76706569hg38UCSC Ensembl
Outerchr17:74702195..74702651hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38457
hg19457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716258
Supporting Variants
SamplesSSM066
Known GenesMXRA7
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6776395
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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